In this distinct group of dominantly inherited neurodegenerative disorders, including Huntington’s disease (HD) and various spinocerebellar ataxias (SCA), the expansion of the polyglutamine (polyQ) tract in these proteins results in conformational changes and, eventually, aggregate formation of the mutated protein. Recently started RNA-targeting trials aim to reduce the levels of the disease-causing polyQ proteins. However, these exciting developments have also raised four new and urgent questions: 1) when is the optimal time to start treatment; 2) who will benefit from these therapies and can we derive patient-tailored predictions 3) can alternative therapeutic strategies be developed to lower the mutant protein that are less invasive, and 4) how to aid gene-carriers in personal decisions on life-planning and treatment options? The consortium composed of academic and biotech researchers, clinicians, ethics experts and patient communities aims to address these questions, and define hallmarks that can best be used to predict disease-onset and timing of interventions and to evaluate novel therapeutic strategies.
Willeke de Roon, Susanne de Bot and Monique Mulder, together with the departments of human genetics, neurology and cell & chemical biology from the Leiden University Medical Centre (LUMC) are involved in the CureQ project and will work in concert with many groups in the consortium: Amsterdam UMC, Erasmus MC, ADCA/Ataxie Vereniging Nederland, Campagneteam Huntington, Hanze Hogeschool, Hogeschool van Amsterdam, Maastricht UMC+, Prinses Máxima Centrum, Radboudumc, Stichting Proefdiervrij, UMC Groningen, VectorY, Vereniging van Huntington and Vico Therapeutics.
The total amount allocated for the program is 5.5 million euro.
Want to know more about CureQ? Read all about it (in Dutch) here